Cargando…

Lymphedema complicated by protein-losing enteropathy with a 22q13.3 deletion and the potential role of CELSR1: A case report

INTRODUCTION: 22q13.3 deletion syndrome is a well-known syndrome characterized by typical clinical findings including neonatal hypotonia, absent or severely delayed speech, intellectual disability, and other various features, and detection of a heterozygous deletion of chromosome 22q13.3 with the in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xia, Song, Liu, Zhong, Yan, Huifang, Chang, Kun, Sun, Yuguang, Wang, Jingmin, Shen, Wenbin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213278/ https://www.ncbi.nlm.nih.gov/pubmed/34128868 http://dx.doi.org/10.1097/MD.0000000000026307

Ejemplares similares

Coexistence of t(2;14;11)(p16.1;q32;q23) and t(14;19)(q32;q13.3) chromosome translocations in a patient with chronic lymphocytic leukemia: A case report
por: Liu, Guangming, et al.
Publicado: (2017)

Deletion 22q13.3 syndrome
por: Phelan, Mary C
Publicado: (2008)

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report
por: Aleksiūnienė, Beata, et al.
Publicado: (2017)

Late-onset Lymphedema and Protein-losing Enteropathy with Noonan Syndrome
por: Hasegawa, Kosei, et al.
Publicado: (2009)

A boy with 13.34-Mb interstitial deletion of chromosome 4p15: A new case report and review of the literature
por: Mitroi, Anca Florentina, et al.
Publicado: (2017)

The genotype and phenotype of chromosome 18p deletion syndrome: Case series
por: Jin, Qiujie, et al.
Publicado: (2021)

Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review
por: Zhang, Hongguo, et al.
Publicado: (2021)

Prenatal diagnosis of chromosome 18 long arm deletion syndrome by high-throughput sequencing: Two case reports
por: Bai, Xuechun, et al.
Publicado: (2021)

Prenatal diagnosis of a de novo 15q11.2 microdeletion in a maternal inv(4)(p15q31) fetus with increased nuchal translucency: A case report and literature review
por: Sun, Meiling, et al.
Publicado: (2020)

Cumulative evidence of relationships between multiple variants in 8q24 region and cancer incidence
por: Tong, Yu, et al.
Publicado: (2020)

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
por: Lv, Xin, et al.
Publicado: (2023)

Angiotensin Converting Enzyme Gene Insertion/Deletion Polymorphism and Vesicoureteral Reflux in Children: A Meta-Analysis of 14 Case–Control Studies
por: Ai, Jin-Wei, et al.
Publicado: (2015)

Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report
por: Tünnemann-Tarr, Adrienn, et al.
Publicado: (2021)

A novel mutation in CELSR1 is associated with hereditary lymphedema
por: Gonzalez-Garay, M. L., et al.
Publicado: (2016)

A novel PMP22 insertion mutation causing Charcot–Marie–Tooth disease type 3: A case report
por: Han, Liang, et al.
Publicado: (2021)

A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report
por: Wang, He, et al.
Publicado: (2022)

Prenatal detection of a 7q11.21 microdeletion (517–605 kb): A variant with normal characteristics at birth (STROBE)
por: Zhang, Hongguo, et al.
Publicado: (2021)

Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect: A case report and literature review
por: Yue, Fagui, et al.
Publicado: (2021)

Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign
por: Yue, Fagui, et al.
Publicado: (2022)

A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother: Case report
por: Sha, Jing, et al.
Publicado: (2022)

Molecular characterization of small supernumerary marker chromosomes derived from chromosome 14/22 detected in adult women with fertility problems: Three case reports and literature review
por: Sun, Meiling, et al.
Publicado: (2020)

Association of the IL-13 polymorphisms rs1800925 and rs20541 with chronic obstructive pulmonary disease risk: An updated meta-analysis
por: Liao, Ning, et al.
Publicado: (2017)

A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report
por: Tao, Tian, et al.
Publicado: (2020)

Does Tenascin have Clinical Implications in Pathological Grade of Glioma Patients?: A Systematic Meta-Analysis
por: Kong, Xiangyi, et al.
Publicado: (2015)

Construction and validation of a novel prognostic model for thyroid cancer based on N7-methylguanosine modification-related lncRNAs
por: Zhou, Yang, et al.
Publicado: (2022)

Marginal Zone Lymphoma Complicated by Protein Losing Enteropathy
por: Stanek, Nadine, et al.
Publicado: (2016)

Protein-Losing Enteropathy as a Complication of the Ketogenic Diet
por: Ahn, Won Kee, et al.
Publicado: (2017)

Protein-Losing Enteropathy in Ulcerative Colitis
por: Ungaro, Ryan, et al.
Publicado: (2012)

Protein-Losing Enteropathy in Primary Lymphangiectasia
por: Crutzen, Bernard, et al.
Publicado: (2020)

Case report: Noonan syndrome with protein-losing enteropathy
por: Ou, Yang, et al.
Publicado: (2023)

Protein-losing Enteropathy Complicated with Primary Intestinal Follicular Lymphoma
por: Minemura, Tomoki, et al.
Publicado: (2021)

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
por: Breen, Michael S., et al.
Publicado: (2022)

NOTCH3 Gene Polymorphism is Associated With the Prognosis of Gliomas in Chinese Patients
por: Shen, Zhipeng, et al.
Publicado: (2015)

Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report
por: Nishina-Uchida, Noriko, et al.
Publicado: (2015)

Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing
por: Wu, Chen-Chi, et al.
Publicado: (2015)

Functional Restriction for the Fear of Falling In Family Caregivers
por: Shen, Jing, et al.
Publicado: (2015)

RAS Mutations in AUS/FLUS Cytology: Does it Have an Additional Role in BRAF(V600E) Mutation-Negative Nodules?
por: Yoon, Jung Hyun, et al.
Publicado: (2015)

The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population
por: Lan, Wenjing, et al.
Publicado: (2015)

Association Between SLCO1B1 Gene T521C Polymorphism and Statin-Related Myopathy Risk: A Meta-Analysis of Case–Control Studies
por: Hou, Qingtao, et al.
Publicado: (2015)

Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study
por: Dytz, Marcio Garrison, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_rg6pdr6jfuthborvqdtisc1ff9